Article
Functional classification of GNAI1 disorder variants in Caenorhabditis elegans uncovers conserved and cell-specific mechanisms of dysfunction.
Genetics - 10 Dec 2025
Salama Rehab, Peet Eric, Morrione Thomas L, Durant Sarah, Seager Maxwell, Rennie Madison, Scarlata Suzanne, Nechipurenko Inna
Abstract excerpt
Heterotrimeric G proteins transduce signals from G protein-coupled receptors, which mediate key aspects of neuronal development and function. Mutations in the GNAI1 gene, which encodes Gαi1, cause a disorder characterized by developmental delay, intellectual disability, hypotonia, and epilepsy. However, the mechanistic basis for this disorder remains unknown. Here, we show that GNAI1 is required for ciliogenesis...
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